## Communicated by Andreas Gal Usher syndrome type II (USH2) is an autosomal recessive disorder, characterised by moderate to severe high-frequency hearing impairment, normal balance function and progressive visual impairment due to retinitis pigmentosa. Usher syndrome type IIa, the most common su
Spectrum of Mutations in USH2A in British Patients with Usher Syndrome Type II
✍ Scribed by Bart P Leroy; José A Aragon-Martin; Michael D Weston; David A.R Bessant; Catherine Willis; Andrew R Webster; Alan C Bird; William J Kimberling; Annette M Payne; Shomi S Bhattacharya
- Book ID
- 115605698
- Publisher
- Elsevier Science
- Year
- 2001
- Tongue
- English
- Weight
- 159 KB
- Volume
- 72
- Category
- Article
- ISSN
- 0014-4835
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Usher syndrome type II (USH2) is characterised by moderate to severe high-frequency hearing impairment, progressive visual loss due to retinitis pigmentosa and intact vestibular responses. Three loci are known for USH2, however, only the gene for USH2a (USH2A) has been identified. Mutation analysis
Usher syndrome is an autosomal recessive disorder characterized by congenital hearing impairment and retinitis pigmentosa. Three clinical types are known (USH1, USH2 and USH3), and there is an extensive genetic heterogeneity, with at least ten genes implicated. The most frequently mutated genes are